rs10004542 - STX18-AS1

Magnitude 2.2 · 1 study on file

Reported associations

  • Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank. - Hernia : the journal of hernias and abdominal wall surgery (2022) · Wei J, Attaar M, Shi Z, Na R, Resurreccion WK, Haggerty SP, Zheng SL, Helfand BT, Ujiki MB, Xu J · PubMed 34382107

    Familial aggregation is known for both hernia development and recurrence. To date, only one genome-wide association study (GWAS) limited to inguinal hernia has been reported that identified four risk-associated loci. We aim to investigate polygenic architecture of abdominal wall hernia development and recurrence. A GWAS was performed in 367,394 subjects from the UK Biobank to investigate the polygenic architecture of abdominal wall hernia subtypes (inguinal, femoral, umbilical, ventral) and identify specific single nucleotide polymorphisms (SNPs) that are associated with their risk. Expression quantitative trait loci (eQTL) analysis was performed to identify genes whose expression levels are associated with these SNPs. A genetic risk score (GRS) was used to assess the cumulative effect of


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • inguinal hernia risk assessment and surveillance Moderate

    Carriers of the A allele at rs10004542 have approximately 7% increased risk of inguinal hernia; early awareness enables prompt diagnosis and intervention.

Lifestyle

  • heavy lifting and intense straining Moderate

    Mechanical strain is a major inguinal hernia risk factor; carriers of the rs10004542 A allele have significantly increased hernia risk and should minimize abdominal pressure from heavy exertion.

    Avoid repetitive heavy lifting above body weight; use proper lifting mechanics; avoid heavy Valsalva maneuvers

  • weight management and obesity prevention Moderate

    Obesity increases intra-abdominal pressure and is a hernia risk factor; the A allele at rs10004542 confers genetic predisposition to inguinal hernia.

    Maintain BMI 18.5-24.9 kg/m2; gradual weight loss if overweight